Canonical Allele Identifier: CA388574046

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103515195G>C (hg19) ; chr13:g.102862845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862845G>C , CM000675.2:g.102862845G>C	GRCh38
NC_000013.10:g.103515195G>C , CM000675.1:g.103515195G>C	GRCh37
NC_000013.9:g.102313196G>C	NCBI36
NG_007146.1:g.22022G>C , LRG_464:g.22022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1937G>C (ERCC5)
ENST00000682869.1:n.2345G>C (ERCC5)
ENST00000683246.1:n.2473G>C (ERCC5)
ENST00000639132.1:c.2371G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Glu791Gln
ENST00000639435.1:c.3058G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1020Gln
ENST00000651002.1:c.*1457G>C (ERCC5)	ENSP00000498809.1:n.*1457G>C
ENST00000651055.1:n.1825G>C (ERCC5)
ENST00000651281.1:n.2064G>C (ERCC5)
ENST00000651387.1:n.1180G>C (ERCC5)
ENST00000651470.1:c.1696G>C (ERCC5)	ENSP00000498701.1:p.Glu566Gln
ENST00000652225.2:c.1696G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Glu566Gln
ENST00000652613.1:c.1192G>C (ERCC5)	ENSP00000498357.1:p.Glu398Gln
ENST00000355739.8:c.1696G>C (ERCC5)	ENSP00000347978.4:p.Glu566Gln
ENST00000602836.1:c.2972G>C (BIVM-ERCC5)
ENST00000610537.4:c.1696G>C (ERCC5)	ENSP00000478667.1:p.Glu566Gln
NM_000123.3:c.1696G>C , LRG_464t1:c.1696G>C (ERCC5)	NP_000114.2:p.Glu566Gln
NM_001204425.1:c.3058G>C (BIVM-ERCC5)	NP_001191354.1:p.Glu1020Gln
NM_000123.4:c.1696G>C (ERCC5) MANE Select	NP_000114.3:p.Glu566Gln
NM_001204425.2:c.3058G>C (BIVM-ERCC5)	NP_001191354.2:p.Glu1020Gln